Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 18

Results: 17

Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2825, doi. 10.1093/hmg/ddl225

By:

Reiter, Lawrence T.;
Seagroves, Tiffany N.;
Bowers, Megan;
Bier, Ethan

Publication type:

Article

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2813, doi. 10.1093/hmg/ddl223

By:

Barcellos, Lisa F.;
Sawcer, Stephen;
Ramsay, Patricia P.;
Baranzini, Sergio E.;
Thomson, Glenys;
Briggs, Farren;
Cree, Bruce C.A.;
Begovich, Ann B.;
Villoslada, Pablo;
Montalban, Xavier;
Uccelli, Antonio;
Savettieri, Giovanni;
Lincoln, Robin R.;
DeLoa, Carolyn;
Haines, Jonathan L.;
Pericak-Vance, Margaret A.;
Compston, Alastair;
Hauser, Stephen L.;
Oksenberg, Jorge R.

Publication type:

Article

RGS4 mRNA expression in postmortem human cortex is associated with COMT Val158Met genotype and COMT enzyme activity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2804, doi. 10.1093/hmg/ddl222

By:

Lipska, Barbara K.;
Mitkus, Shruti;
Caruso, Mark;
Hyde, Thomas M.;
Chen, Jingshan;
Vakkalanka, Radhakrishna;
Straub, Richard E.;
Weinberger, Daniel R.;
Kleinman, Joel E.

Publication type:

Article

Characterization of recessive RYR1 mutations in core myopathies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2791, doi. 10.1093/hmg/ddl221

By:

Zhou, Haiyan;
Yamaguchi, Naohiro;
Xu, Le;
Wang, Ying;
Sewry, Caroline;
Jungbluth, Heinz;
Zorzato, Francesco;
Bertini, Enrico;
Muntoni, Francesco;
Meissner, Gerhard;
Treves, Susan

Publication type:

Article

Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Müller glia cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2659, doi. 10.1093/hmg/ddl194

By:

van Rossum, Agnes G.S.H.;
Aartsen, Wendy M.;
Meuleman, Jan;
Klooster, Jan;
Malysheva, Anna;
Versteeg, Inge;
Arsanto, Jean-Pierre;
Le Bivic, André;
Wijnholds, Jan

Publication type:

Article

Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2784, doi. 10.1093/hmg/ddl220

By:

Thakkinstian, Ammarin;
Han, Pearline;
McEvoy, Mark;
Smith, Wayne;
Hoh, Josephine;
Magnusson, Kristinn;
Zhang, Kang;
Attia, John

Publication type:

Article

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2763, doi. 10.1093/hmg/ddl212

By:

Wood, Jonathan D.;
Landers, Jennifer A.;
Bingley, Megan;
McDermott, Christopher J.;
Thomas-McArthur, Vickie;
Gleadall, Lisa J.;
Shaw, Pamela J.;
Cunliffe, Vincent T.

Publication type:

Article

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2752, doi. 10.1093/hmg/ddl211

By:

Shukkur, Ebrahim Abdul;
Shimohata, Atsushi;
Akagi, Takumi;
Yu, Wenxin;
Yamaguchi, Mika;
Murayama, Miyuki;
Chui, Dehua;
Takeuchi, Tamaki;
Amano, Kenji;
Subramhanya, Karthik Harve;
Hashikawa, Tsutomu;
Sago, Haruhiko;
Epstein, Charles J.;
Takashima, Akihiko;
Yamakawa, Kazuhiro

Publication type:

Article

Green tea (−)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2743, doi. 10.1093/hmg/ddl210

By:

Ehrnhoefer, Dagmar E.;
Duennwald, Martin;
Markovic, Phoebe;
Wacker, Jennifer L.;
Engemann, Sabine;
Roark, Margaret;
Legleiter, Justin;
Marsh, J. Lawrence;
Thompson, Leslie M.;
Lindquist, Susan;
Muchowski, Paul J.;
Wanker, Erich E.

Publication type:

Article

Identification of the transcription factor ARNTL2 as a candidate gene for the type 1 diabetes locus Idd6.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2732, doi. 10.1093/hmg/ddl209

By:

Hung, Ming-Shiu;
Avner, Philip;
Rogner, Ute Christine

Publication type:

Article

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2772, doi. 10.1093/hmg/ddl218

By:

Dempfle, Astrid;
Wudy, Stefan A.;
Saar, Kathrin;
Hagemann, Sandra;
Friedel, Susann;
Scherag, André;
Berthold, Lars D.;
Alzen, Gerhard;
Gortner, Ludwig;
Blum, Werner F.;
Hinney, Anke;
Nürnberg, Peter;
Schäfer, Helmut;
Hebebrand, Johannes

Publication type:

Article

Monoamine oxidase A knockout mice exhibit impaired nicotine preference but normal responses to novel stimuli.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2721, doi. 10.1093/hmg/ddl206

By:

Agatsuma, Soh;
Lee, MoonSook;
Zhu, Hongwen;
Chen, Kevin;
Shih, Jean C.;
Seif, Isabelle;
Hiroi, Noboru

Publication type:

Article

Analysis of epistasis for diabetic nephropathy among type 2 diabetic patients.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2701, doi. 10.1093/hmg/ddl203

By:

Hsieh, Chang-Hsun;
Liang, Kung-Hao;
Hung, Yi-Jen;
Huang, Li-Chin;
Pei, Dee;
Liao, Ya-Tang;
Kuo, Shi-Wen;
Bey, Monica Shian-Jy;
Chen, Jui-Lin;
Chen, Ellson Y.

Publication type:

Article

Laminin α1 chain improves laminin α2 chain deficient peripheral neuropathy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2690, doi. 10.1093/hmg/ddl201

By:

Gawlik, Kinga I.;
Li, Jia-Yi;
Petersén, Åsa;
Durbeej, Madeleine

Publication type:

Article

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2682, doi. 10.1093/hmg/ddl199

By:

Ghiorzo, Paola;
Gargiulo, Sara;
Pastorino, Lorenza;
Nasti, Sabina;
Cusano, Roberto;
Bruno, William;
Gliori, Sara;
Sertoli, Mario R.;
Burroni, Anna;
Savarino, Vincenzo;
Gensini, Francesca;
Sestini, Roberta;
Queirolo, Paola;
Goldstein, Alisa M.;
Scarrà, Giovanna Bianchi

Publication type:

Article

Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2673, doi. 10.1093/hmg/ddl198

By:

Krausz, Csilla;
Degl'Innocenti, Selene;
Nuti, Francesca;
Morelli, Annamaria;
Felici, Federica;
Sansone, Mauro;
Varriale, Gennaro;
Forti, Gianni

Publication type:

Article

TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 18, p. 2709, doi. 10.1093/hmg/ddl204

By:

Stone, Steven;
Abkevich, Victor;
Russell, Deanna L.;
Riley, Robyn;
Timms, Kirsten;
Tran, Thanh;
Trem, Deborah;
Frank, David;
Jammulapati, Srikanth;
Neff, Chris D.;
Iliev, Diana;
Gress, Richard;
He, Gongping;
Frech, Georges C.;
Adams, Ted D.;
Skolnick, Mark H.;
Lanchbury, Jerry S.;
Gutin, Alexander;
Hunt, Steven C.;
Shattuck, Donna

Publication type:

Article